ClinVar Miner

List of variants in gene FGFR3 reported as uncertain significance by GeneDx

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Total variants: 92
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HGVS dbSNP gnomAD frequency
NM_000142.5(FGFR3):c.1550A>G (p.Lys517Arg) rs139707740 0.00020
NM_000142.5(FGFR3):c.2153A>G (p.Asn718Ser) rs139773438 0.00011
NM_000142.5(FGFR3):c.1379C>T (p.Pro460Leu) rs764488842 0.00009
NM_000142.5(FGFR3):c.1676C>T (p.Ala559Val) rs775946807 0.00009
NM_000142.5(FGFR3):c.1753C>T (p.Pro585Ser) rs761163163 0.00008
NM_000142.5(FGFR3):c.707G>A (p.Ser236Asn) rs200495316 0.00008
NM_000142.5(FGFR3):c.639G>A (p.Leu213=) rs138707520 0.00007
NM_000142.5(FGFR3):c.885C>T (p.Gly295=) rs375181682 0.00006
NM_000142.5(FGFR3):c.2349_2350del (p.Asp785fs) rs759113408 0.00004
NM_000142.5(FGFR3):c.585C>G (p.Phe195Leu) rs1010991084 0.00004
NM_000142.5(FGFR3):c.1829C>A (p.Ser610Tyr) rs1176295260 0.00003
NM_000142.5(FGFR3):c.2374G>A (p.Asp792Asn) rs376043260 0.00003
NM_000142.5(FGFR3):c.389C>T (p.Ser130Phe) rs113172184 0.00003
NM_000142.5(FGFR3):c.1195C>T (p.Arg399Cys) rs370064407 0.00002
NM_000142.5(FGFR3):c.1537G>A (p.Asp513Asn) rs121913112 0.00002
NM_000142.5(FGFR3):c.1675G>C (p.Ala559Pro) rs768385286 0.00002
NM_000142.5(FGFR3):c.1993G>T (p.Ala665Ser) rs764892330 0.00002
NM_000142.5(FGFR3):c.2249G>A (p.Arg750His) rs762888506 0.00002
NM_000142.5(FGFR3):c.712C>T (p.Arg238Trp) rs766423062 0.00002
NM_000142.5(FGFR3):c.779C>T (p.Pro260Leu) rs751038752 0.00002
NM_000142.5(FGFR3):c.1048C>A (p.His350Asn) rs762523796 0.00001
NM_000142.5(FGFR3):c.1255C>T (p.Leu419Phe) rs770029887 0.00001
NM_000142.5(FGFR3):c.150C>T (p.Val50=) rs750641928 0.00001
NM_000142.5(FGFR3):c.1547A>G (p.Asp516Gly) rs772276122 0.00001
NM_000142.5(FGFR3):c.1612A>G (p.Ile538Val) rs80053154 0.00001
NM_000142.5(FGFR3):c.2360C>G (p.Ser787Cys) rs1174982652 0.00001
NM_000142.5(FGFR3):c.328C>T (p.Arg110Trp) rs978856665 0.00001
NM_000142.5(FGFR3):c.43G>A (p.Ala15Thr) rs573850631 0.00001
NM_000142.5(FGFR3):c.446-10C>T rs762297923 0.00001
NM_000142.5(FGFR3):c.630G>A (p.Gln210=) rs777091470 0.00001
NM_000142.5(FGFR3):c.739G>A (p.Glu247Lys) rs565612580 0.00001
NM_000142.5(FGFR3):c.932C>T (p.Thr311Met) rs761527653 0.00001
NM_000142.5(FGFR3):c.938G>A (p.Gly313Asp) rs1560426864 0.00001
NM_000142.5(FGFR3):c.1055C>T (p.Ala352Val) rs886043604
NM_000142.5(FGFR3):c.1085_1096del (p.Glu362_Glu365del)
NM_000142.5(FGFR3):c.1099G>T (p.Asp367Tyr) rs1444200455
NM_000142.5(FGFR3):c.109G>A (p.Glu37Lys) rs1553842213
NM_000142.5(FGFR3):c.1121C>G (p.Ala374Gly) rs2108796824
NM_000142.5(FGFR3):c.1130T>C (p.Leu377Pro)
NM_000142.5(FGFR3):c.1148T>G (p.Phe383Cys)
NM_000142.5(FGFR3):c.1190G>A (p.Arg397His) rs542210035
NM_000142.5(FGFR3):c.1242C>G (p.Ile414Met) rs143094785
NM_000142.5(FGFR3):c.1247G>A (p.Arg416His)
NM_000142.5(FGFR3):c.1276G>A (p.Glu426Lys) rs1721673899
NM_000142.5(FGFR3):c.1289C>T (p.Ser430Phe)
NM_000142.5(FGFR3):c.129del (p.Gly44fs)
NM_000142.5(FGFR3):c.1304CAC[1] (p.Pro436del)
NM_000142.5(FGFR3):c.1315C>G (p.Arg439Gly) rs749083353
NM_000142.5(FGFR3):c.1436G>A (p.Gly479Glu)
NM_000142.5(FGFR3):c.1450G>A (p.Gly484Ser) rs2108802167
NM_000142.5(FGFR3):c.1474A>G (p.Ile492Val)
NM_000142.5(FGFR3):c.1544C>T (p.Thr515Ile)
NM_000142.5(FGFR3):c.1546G>C (p.Asp516His)
NM_000142.5(FGFR3):c.1646-11C>A rs763302590
NM_000142.5(FGFR3):c.1663G>T (p.Val555Leu) rs1474187970
NM_000142.5(FGFR3):c.1675G>A (p.Ala559Thr) rs768385286
NM_000142.5(FGFR3):c.1691G>A (p.Arg564Gln)
NM_000142.5(FGFR3):c.1765C>G (p.Leu589Val) rs587778357
NM_000142.5(FGFR3):c.1808G>A (p.Arg603Gln) rs1462697338
NM_000142.5(FGFR3):c.1838G>A (p.Cys613Tyr) rs1293700770
NM_000142.5(FGFR3):c.1862G>T (p.Arg621Leu) rs121913113
NM_000142.5(FGFR3):c.1900G>A (p.Ala634Thr) rs2108807024
NM_000142.5(FGFR3):c.1915G>A (p.Ala639Thr)
NM_000142.5(FGFR3):c.1916C>T (p.Ala639Val)
NM_000142.5(FGFR3):c.1921G>A (p.Asp641Asn) rs2108807251
NM_000142.5(FGFR3):c.1982T>C (p.Met661Thr)
NM_000142.5(FGFR3):c.2005C>G (p.Arg669Gly) rs1490564667
NM_000142.5(FGFR3):c.202_204delinsT (p.Pro68fs) rs2108772949
NM_000142.5(FGFR3):c.2110_2126del (p.Phe704fs) rs2108812167
NM_000142.5(FGFR3):c.2143A>G (p.Lys715Glu)
NM_000142.5(FGFR3):c.2222T>C (p.Phe741Ser) rs768999235
NM_000142.5(FGFR3):c.2258C>T (p.Thr753Ile)
NM_000142.5(FGFR3):c.2302G>A (p.Glu768Lys)
NM_000142.5(FGFR3):c.2309del (p.Tyr770fs) rs1486795772
NM_000142.5(FGFR3):c.2314C>G (p.Pro772Ala)
NM_000142.5(FGFR3):c.2315C>T (p.Pro772Leu)
NM_000142.5(FGFR3):c.2327A>C (p.Asp776Ala) rs1435446706
NM_000142.5(FGFR3):c.2337del (p.Ser780fs) rs2108817655
NM_000142.5(FGFR3):c.2374dup (p.Asp792fs) rs1057518205
NM_000142.5(FGFR3):c.256C>T (p.Arg86Cys)
NM_000142.5(FGFR3):c.346C>T (p.Arg116Cys) rs886042775
NM_000142.5(FGFR3):c.350T>C (p.Val117Ala) rs1475035118
NM_000142.5(FGFR3):c.416A>T (p.Asp139Val)
NM_000142.5(FGFR3):c.43G>T (p.Ala15Ser) rs573850631
NM_000142.5(FGFR3):c.443_445+3delinsTAGGTG
NM_000142.5(FGFR3):c.445+2_445+5del rs756854039
NM_000142.5(FGFR3):c.565C>T (p.Leu189=)
NM_000142.5(FGFR3):c.781G>A (p.Ala261Thr) rs2108783663
NM_000142.5(FGFR3):c.847C>A (p.Pro283Thr) rs769692611
NM_000142.5(FGFR3):c.935C>T (p.Ala312Val)
NM_000142.5(FGFR3):c.955_957del (p.Lys319del)
NM_000142.5(FGFR3):c.965A>G (p.Glu322Gly) rs1281038061

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